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Reference SNP (refSNP) Cluster Report: rs8112524                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:116/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwith2hitWith1000GenomeData
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G (FWD)
Allele Origin:
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:G=0.4597/7841 (ExAC)
A=0.4533/2270 (1000 Genomes)
G=0.4524/5288 (GO-ESP)
G=0.4888/61373 (TOPMED)
HGVS Names
  • CM000681.2:g.2250529G>A
  • NC_000019.10:g.2250529G>A
  • NC_000019.9:g.2250528G>A
  • NG_012190.1:g.6416G>A
  • NG_032853.1:g.10895C>T
  • NM_000479.4:c.555+50G>A
  • NR_036207.1:n.-110G>A
Links
SNP Details are organized in the following sections:
GeneView Map Submission Fasta Resource Diversity Validation

  Integrated Maps (Hint: click on 'Chr Pos' to see variant in the new NCBI variation viewer) back to top

  GeneView back to top

GeneView via direct blast against RefSeq sequences (used when no gene model is available): N/A


  Submitter records for this RefSNP Cluster back to top
The submission ss283098479 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs8112524 during BLAST analysis for the current build.


NCBI
Assay ID
Handle|Submitter IDValidation
Status
ss to rs
Orientation
/Strand
Alleles5' Near Seq 30 bp3' Near Seq 30 bpEntry
Date
Update
Date
Build
Added
Molecule
Type
Freq
Warning
Ancestral
Allele
Success
Rate
ss12472038WI_SSAHASNP|chr19.NT_011255.13_2190528fwd/TA/Gggcagtgcccgggccgtggcggggggcatgatttgttgcagggtctgcagtactgagaac07/04/0310/10/03116Genomicunknown
ss21508402SSAHASNP|WGSA-200403-chr19.chr19.NT_011255.14_2190528fwd/TA/Gggcagtgcccgggccgtggcggggggcatgatttgttgcagggtctgcagtactgagaac03/20/0403/20/04121Genomicunknown
ss44189065ABI|hCV2581208byFreqfwd/TA/Gggcagtgcccgggccgtggcggggggcatgatttgttgcagggtctgcagtactgagaac07/18/0509/05/14126Genomicunknown
ss75051336ILLUMINA|ILMN_Human_1M_rs8112524fwd/TA/Gggcagtgcccgggccgtggcggggggcatgatttgttgcagggtctgcagtactgagaac08/28/0708/29/07129Genomicunknown
ss78318595HGSV|Cor12878_SNV_20070510.chr19_2201528fwd/TA/Gggcagtgcccgggccgtggcggggggcatgatttgttgcagggtctgcagtactgagaac10/17/0710/18/07129Genomicunknown
ss90881574BCMHGSC_JDW|JWB-1135960fwd/TA/Gggcagtgcccgggccgtggcggggggcatgatttgttgcagggtctgcagtactgagaac02/26/0803/01/08129Genomicunknown
ss96249103HUMANGENOME_JCVI|1103691072202fwd/TA/Gggcagtgcccgggccgtggcggggggcatgatttgttgcagggtctgcagtactgagaac03/25/0803/25/08130Genomicunknown
ss1109845231000GENOMES|CEU.trio.12.15.2008_3569797_chr19_2201528fwd/TA/Gggcagtgcccgggccgtggcggggggcatgatttgttgcagggtctgcagtactgagaac12/17/0812/17/08130Genomicunknown
ss1147427111000GENOMES|NA19240_2008_12_16_3210086_chr19_2201528fwd/TA/Gggcagtgcccgggccgtggcggggggcatgatttgttgcagggtctgcagtactgagaac12/18/0812/18/08130Genomicunknown
ss119585185KRIBB_YJKIM|KHS1747432fwd/TA/Gggcagtgcccgggccgtggcggggggcatgatttgttgcagggtctgcagtactgagaac02/04/0902/05/09131Genomicunknown
ss136302040ENSEMBL|ENSSNP1504979fwd/TA/Gggcagtgcccgggccgtggcggggggcatgatttgttgcagggtctgcagtactgagaac12/08/0810/15/09131Genomicunknown
ss137515888ENSEMBL|ENSSNP11390495fwd/TA/Gggcagtgcccgggccgtggcggggggcatgatttgttgcagggtctgcagtactgagaac05/15/0905/16/09131Genomicunknown
ss155528315GMI|GMI_SNP_103838187fwd/TA/Gggcagtgcccgggccgtggcggggggcatgatttgttgcagggtctgcagtactgagaac06/24/0906/24/09131Genomicunknown
ss160951224ILLUMINA|HumanOmni1-Quad_v1-0_B_rs8112524-128_B_R_1514018891rev/BC/Tgttctcagtactgcagaccctgcaacaaatcatgccccccgccacggcccgggcactgcc08/04/0910/05/09131Genomicunknown
ss167661243COMPLETE_GENOMICS|NA07022_36_chr19_2201528fwd/TA/Gggcagtgcccgggccgtggcggggggcatgatttgttgcagggtctgcagtactgagaac09/30/0909/30/09132Genomicunknown
ss168870211COMPLETE_GENOMICS|NA19240_36_chr19_2201528fwd/TA/Gggcagtgcccgggccgtggcggggggcatgatttgttgcagggtctgcagtactgagaac10/01/0910/01/09132Genomicunknown
ss174723873ILLUMINA|Human1M-Duov3_B_rs8112524-128_B_R_1514018891rev/BC/Tgttctcagtactgcagaccctgcaacaaatcatgccccccgccacggcccgggcactgcc10/01/0910/05/09132Genomicunknown
ss203590770BUSHMAN|BUSHMAN-chr19-2201527fwd/TA/Gggcagtgcccgggccgtggcggggggcatgatttgttgcagggtctgcagtactgagaac02/16/1003/09/10132Genomicunknown
ss208475439BCM-HGSC-SUB|BCM_CMT_1011-3115922fwd/TA/Gggcagtgcccgggccgtggcggggggcatgatttgttgcagggtctgcagtactgagaac03/15/1003/19/10132Genomicunknown
ss2280096781000GENOMES|pilot_1_YRI_9819361_chr19_2201528fwd/A/Gggcagtgcccgggccgtggcggggggcatgatttgttgcagggtctgcagtactgagaac04/22/1004/22/10132Genomicunknown
ss2375790031000GENOMES|pilot_1_CEU_7183632_chr19_2201528fwd/A/Gggcagtgcccgggccgtggcggggggcatgatttgttgcagggtctgcagtactgagaac05/01/1005/01/10132Genomicunknown
ss2438061741000GENOMES|pilot_1_CHB+JPT_5691251_chr19_2201528fwd/A/Gggcagtgcccgggccgtggcggggggcatgatttgttgcagggtctgcagtactgagaac05/01/1005/01/10132Genomicunknown
ss255434442BL|SNP2991_19_2201528fwd/TA/Gggcagtgcccgggccgtggcggggggcatgatttgttgcagggtctgcagtactgagaac08/20/1008/20/10134Genomicunknown
ss283098479GMI|GMI_AK_SNP_7418898fwd/A/Gggcagtgcccgggccgtggcggggggcatgatttgttgcagggtctgcagtactgagaac12/16/1012/16/10137Genomicunknown
ss287333875GMI|GMI_NA10851_SNP_3346666fwd/A/Gggcagtgcccgggccgtggcggggggcatgatttgttgcagggtctgcagtactgagaac12/17/1012/17/10138Genomicunknown
ss292173826PJP|SNP_1680184_chr19_2201528fwd/A/Gggcagtgcccgggccgtggcggggggcatgatttgttgcagggtctgcagtactgagaac01/21/1101/21/11134Genomicunknown
ss481788638ILLUMINA|HumanOmni2.5-4v1_B_rs8112524-128_B_R_1663433934fwd/TA/Gtgcccgggccgtggcggggggcatgatttgttgcagggtctgcagtactg01/30/1210/28/16137Genomicunknown
ss481820920ILLUMINA|HumanOmniExpress-12v1_C_rs8112524-131_B_R_1857502671fwd/TA/Gtgcccgggccgtggcggggggcatgatttgttgcagggtctgcagtactg01/30/1210/27/16137Genomicunknown
ss482782313ILLUMINA|HumanOmni1-Quad_v1-0_C_rs8112524-131_B_R_1857502671fwd/TA/Gtgcccgggccgtggcggggggcatgatttgttgcagggtctgcagtactg01/30/1208/28/15146Genomicunknown
ss485688977ILLUMINA|HumanOmni2.5-4v1_D_rs8112524-131_B_R_1857502671fwd/TA/Gtgcccgggccgtggcggggggcatgatttgttgcagggtctgcagtactg01/30/1210/28/16137Genomicunknown
ss4911443501000GENOMES|20110521_exome_652148_chr19_2250528fwd/TA/Gggcagtgcccgggccgtggcggggggcatgatttgttgcagggtctgcagtactgagaac02/10/1202/22/12137Genomicunknown
ss565810171TISHKOFF|snp_chr19_2250528fwd/TA/Gtgcccgggccgtggcggggggcatgatttgttgcagggtctgcagtactg11/22/1211/23/12138Genomicunknown
ss661662657SSMP|19_2250528fwd/TA/Gtgcccgggccgtggcggggggcatgatttgttgcagggtctgcagtactg12/14/1202/14/15138Genomicunknown
ss713459398NHLBI-ESP|ESP6500SI-chr19-2250528fwd/TA/Gggcagtgcccgggccgtggcggggggcatgatttgttgcagggtctgcagtactgagaac02/20/1302/20/13138Genomicunknown
ss783290073ILLUMINA|HumanOmni2.5-4v1_H_rs8112524-131_B_R_1857502671fwd/TA/Gtgcccgggccgtggcggggggcatgatttgttgcagggtctgcagtactg05/30/1307/29/15146Genomicunknown
ss832551311ILLUMINA|HumanOmniExpress-12v1_H_rs8112524-131_B_R_1857502671fwd/TA/Gtgcccgggccgtggcggggggcatgatttgttgcagggtctgcagtactg09/17/1306/18/15146Genomicunknown
ss994015794EVA-GONL|EVA-GONL_rs8112524fwd/TA/Gtgcccgggccgtggcggggggcatgatttgttgcagggtctgcagtactg04/23/1405/01/14142Genomicunknown
ss1081713207JMKIDD_LAB|HGDP_WGS_chr19_2250528fwd/TA/Gtgcccgggccgtggcggggggcatgatttgttgcagggtctgcagtactg07/10/1407/12/14142Genomicunknown
ss13620803691000GENOMES|PHASE3_V1_75756730fwd/A/Gtgcccgggccgtggcggggggcatgatttgttgcagggtctgcagtactg08/16/1408/16/14142Genomicunknown
ss1428312475DDI|DDI_rs8112524fwd/TA/Gtgcccgggccgtggcggggggcatgatttgttgcagggtctgcagtactg11/04/1411/04/14144Genomicunknown
ss1578526801EVA_GENOME_DK|EVA_GENOME_DK_snv_rs8112524fwd/TA/Gtgcccgggccgtggcggggggcatgatttgttgcagggtctgcagtactg02/19/1502/20/15144Genomicunknown
ss1637438015EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_19_2250528_41817637fwd/A/Gtgcccgggccgtggcggggggcatgatttgttgcagggtctgcagtactg03/04/1503/04/15144Genomicunknown
ss1680432048EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_19_2250528_41817637fwd/A/Gtgcccgggccgtggcggggggcatgatttgttgcagggtctgcagtactg03/04/1503/04/15144Genomicunknown
ss1693245256EVA_EXAC|EVA_EXAC_8653279fwd/A/Gtgcccgggccgtggcggggggcatgatttgttgcagggtctgcagtactg03/04/1503/04/15144Genomicunknown
ss1698078773EVA_DECODE|EVA_DECODE_19_2201528_19570_rs8112524fwd/TA/Gtgcccgggccgtggcggggggcatgatttgttgcagggtctgcagtactg03/02/1503/05/15144Genomicunknown
ss1711492116EVA_MGP|EVA_XIMO_607876fwd/TA/Gtgcccgggccgtggcggggggcatgatttgttgcagggtctgcagtactg03/09/1503/09/15144Genomicunknown
ss1713646903EVA_SVP|EVA_SVP_1340982fwd/TA/Gtgcccgggccgtggcggggggcatgatttgttgcagggtctgcagtactg03/12/1503/12/15144Genomicunknown
ss1752278771ILLUMINA|OmniExpressExome-8v1-1_B_rs8112524-131_B_R_1866859437fwd/TA/Gtgcccgggccgtggcggggggcatgatttgttgcagggtctgcagtactg05/27/1506/09/15146Genomicunknown
ss1809174381HAMMER_LAB|Hsieh_8203549fwd/TA/Gtgcccgggccgtggcggggggcatgatttgttgcagggtctgcagtactg07/15/1507/16/15146Genomicunknown
ss1937492929WEILL_CORNELL_DGM|SNV:chr19:2250528fwd/TA/Gtgcccgggccgtggcggggggcatgatttgttgcagggtctgcagtactg10/16/1510/19/15147Genomicunknown
ss1968593142GENOMED|rs8112524fwd/TA/Gtgcccgggccgtggcggggggcatgatttgttgcagggtctgcagtactg02/16/1602/16/16147Genomicunknown
ss2029521532JJLAB|SNP10024087fwd/TA/Gtgcccgggccgtggcggggggcatgatttgttgcagggtctgcagtactg08/29/1608/31/16149Genomicunknown
ss2158034373USC_VALOUEV|NC_000019.9:g.2250528G>Afwd/A/Gtgcccgggccgtggcggggggcatgatttgttgcagggtctgcagtactg11/17/1611/17/16150Genomicunknown
ss2223740890HUMAN_LONGEVITY|HLI-19-2250529-G-Afwd/A/Gtgcccgggccgtggcggggggcatgatttgttgcagggtctgcagtactg11/18/1611/18/16150Genomicunknown
ss2389162414TOPMED|19_2250528_G/Afwd/A/Gtgcccgggccgtggcggggggcatgatttgttgcagggtctgcagtactg11/19/1611/19/16150Genomicunknown
ss2629259386SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV6397704fwd/A/Gtgcccgggccgtggcggggggcatgatttgttgcagggtctgcagtactg01/06/1701/06/17151Genomicunknown
ss2633509380ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs8112524-131_B_R_18668594fwd/A/Gtgcccgggccgtggcggggggcatgatttgttgcagggtctgcagtactg02/02/1702/02/17151Genomicunknown
ss2702637916GRF|rs8112524fwd/A/Gtgcccgggccgtggcggggggcatgatttgttgcagggtctgcagtactg02/13/1702/13/17151Genomicunknown
ss2743443235GNOMAD|exomes_rs8112524fwd/A/Gtgcccgggccgtggcggggggcatgatttgttgcagggtctgcagtactg05/17/1705/17/17151Genomicunknown
ss2750008563GNOMAD|coding_rs8112524fwd/A/Gtgcccgggccgtggcggggggcatgatttgttgcagggtctgcagtactg05/17/1705/17/17151Genomicunknown
ss2959654426GNOMAD|rs8112524fwd/A/Gtgcccgggccgtggcggggggcatgatttgttgcagggtctgcagtactg05/23/1705/23/17151Genomicunknown
ss3016968569SWEGEN|NC_000019.9:g.2250528G>Afwd/A/Gtgcccgggccgtggcggggggcatgatttgttgcagggtctgcagtactg05/30/1705/30/17151Genomicunknown
ss3028593160BIOINF_KMB_FNS_UNIBA|19.2250529G>Afwd/A/Gtgcccgggccgtggcggggggcatgatttgttgcagggtctgcagtactg07/05/1707/05/17151Genomicunknown
ss3286066210TOPMED|TOPMed_freeze_5?chr19:2,250,529fwd/A/Gtgcccgggccgtggcggggggcatgatttgttgcagggtctgcagtactg10/02/1710/02/17151Genomicunknown
ss3352161994CSHL|rs8112524fwd/A/Gtgcccgggccgtggcggggggcatgatttgttgcagggtctgcagtactg10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs8112524|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=151
 CTTCTTCCCA CAGCCCCAGC CTGTTCTCAG GGCCGCTGGC CTAAGATACT CCCTGCGGGG
 AAGGGGCTTC ATCGGGCACC CCAACCCAGA GACCCCAGGG CGGCAGCCCC ACCCACAGCC
 TCAGACGCAG CCCCTGCCTG CCCCTGCCGT CACCGCTCCC TGGCTGCAGG AAGGCAGCTA
 AGAGGGGCAC CCTTGTCCCC CGCTTGAGGT CCCCTGCACA GTGGCCAGAG CGGCAGGGAC
 AGATCCCAAA GATTCCCGGG GGGTGTGGCC TTCAATGGCT CAGGCGTCCC CTGCTGTCCC
 GGCTGCAGTG ACCTGGGAGC CAACACCCTC GCTGAGGTTC CAGGAGCCCC CGCCTGGAGG
 AGCTGGCCCC CCAGAGCTGG CGCTGCTGGT GCTGTACCCT GGGCCTGGCC CTGAGGTCAC
 TGTGACGAGG GCTGGGCTGC CGGGTGCCCA GGTACCAGGG AGTTGCATGG GGCAGTGCCC
 GGGCCGTGGC GGGGGGCATG
 R
 ATTTGTTGCA GGGTCTGCAG TACTGAGAAC AGCGTAGAAC CAGTGGCGAT GGGAGGAAGG
 GGACCGGTAG AGCGGGGCTG GGTAAGCCTC CATCCAGCCG GGCTGAGCCC TGGTCTCCGC
 AGAGCCTCTG CCCCTCCCGA GACACCCGCT ACCTGGTGTT AGCGGTGGAC CGCCCTGCGG
 GGGCCTGGCG CGGCTCCGGG CTGGCCTTGA CCCTGCAGCC CCGCGGAGAG GGTAGGTCCG
 CGTGGAGAGG GACGGGGAGC CGGGTCGACT GCCCCCGGGC CCCCAGCCCC TGAGCCAGCC
 GCGTGCCCAC CCACCGCAGA CTCCCGGCTG AGTACCGCCC GGCTGCAGGC ACTGCTGTTC
 GGCGACGACC ACCGCTGCTT CACACGGATG ACCCCGGCCC TGCTCCTGCT GCCGCGGTCC
 GAGCCCGCGC CGCTGCCTGC GCACGGCCAG CTGGACACCG TGCCCTTCCC GCCGCCCAGG
 TGCGCGCAGG CACCGGGACA

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_011255 ABBA01002714
dbSNP Blast Analysis
UniGene Cluster ID
112432

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA/A
A/G
G/G
HWPA
G
ss1362080369EAS 1008AF 0.402799990.59719998
EUR 1006AF 0.595400040.40459999
AFR 1322AF 0.306400000.69360000
AMR 694AF 0.498600010.50139999
SAS 978AF 0.525600020.47439998
ss136302040ENSEMBL_Venter 2IG1.00000000 1.00000000
ss137515888ENSEMBL_Watson 2IG1.00000000 1.00000000
ss167661243CEUEuropean 2IG1.00000000 1.00000000
ss168870211YRISub-Saharan African 2IG 1.00000000 0.500000000.50000000
ss1693245256ExAc_Aggregated_Populations 66824AF 0.352253680.64774632
ss228009678pilot_1_YRI_low_coverage_panel 118AF 0.305084740.69491524
ss237579003pilot_1_CEU_low_coverage_panel 120AF 0.616666670.38333333
ss243806174pilot_1_CHB+JPT_low_coverage_panel 120AF 0.449999990.55000001
ss44189065HapMap-CEUEuropean 224IG0.348214300.500000000.151785720.751830000.598214270.40178570
HapMap-HCBAsian 86IG0.209302320.465116290.325581400.751830000.441860470.55813956
HapMap-JPTAsian 172IG0.162790700.569767420.267441870.200325000.447674420.55232561
HapMap-YRISub-Saharan African 226IG0.070796460.504424750.424778760.150222000.323008840.67699116
HAPMAP-ASW 98IG0.183673470.448979590.367346940.654721000.408163280.59183675
HAPMAP-CHBAsian 82IG0.146341460.609756110.243902440.150222000.451219500.54878050
HAPMAP-CHD 170IG0.176470590.470588240.352941191.000000000.411764710.58823532
HAPMAP-GIH 176IG0.261363630.534090940.204545450.527089000.528409060.47159091
HAPMAP-LWK 180IG0.077777780.411111120.511111141.000000000.283333330.71666664
HAPMAP-MEX 100IG0.220000000.479999990.300000011.000000000.460000010.54000002
HAPMAP-MKK 286IG0.104895110.454545470.440559451.000000000.332167830.66783220
HAPMAP-TSI 176IG0.409090910.454545470.136363641.000000000.636363630.36363637
ss96249103J. Craig Venter 2IG1.00000000 1.00000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.497+/-0.0400000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqwith2hitWith1000GenomeData
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

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